Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

ABSTRACT: Autosomal recessive SBNO2 deficiency causes an immunodysregulatory syndrome

PROVIDER: PRJNA781339 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Autosomal recessive PIK3CD deficiency

Project description:Autosomal recessive PIK3CD deficiency

| PRJNA893903 | ENA

iRHOM2 deficiency causes environmentally directed immunodysregulatory disease

Project description:iRHOM2 deficiency causes environmentally directed immunodysregulatory disease

| PRJNA741289 | ENA

iRHOM2 deficiency causes environmentally directed immunodysregulatory disease

Project description:iRHOM2 deficiency causes environmentally directed immunodysregulatory disease

| PRJNA741290 | ENA

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

Project description:Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

| PRJNA766689 | ENA

Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

Project description:Autosomal recessive CD70 deficiency is associated with combined immunodeficiency and EBV viremia

| PRJNA353543 | ENA

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease [T cells]

Project description:Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease [T cells]

| PRJNA766691 | ENA

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease [whole blood]

Project description:Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease [whole blood]

| PRJNA766692 | ENA

Autosomal Recessive CD70 Deficiency

Project description:<p>We describe four patients from two unrelated families of different ethnicities who had primary immunodeficiency predominantly manifesting as susceptibility to EBV-related diseases. We performed whole exome sequencing (P1 and P2 from family 1) or whole genome sequencing (P4 and both parents from family 2) in those two families and identified homozygous frameshift or in-frame deletions in CD70 in these patients which abolished either CD70 surface expression or binding to its counter structure CD27. Sanger sequencing identified the same homozygous <i>CD70</i> mutation in P3, which is not included in the dbGaP submission. Autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency.</p>

| phs001245 | dbGaP

Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

Project description:Exome Sequencing in Autosomal Recessive Progressive External Ophthalmoplegia

| PRJNA75351 | ENA

Autosomal recessive PIK3CD deficiency

Project description:We studied a case with suspected PIK3CD deficiency with a homozygous mutation in the patient in PIK3CD (c.1340-1 G>A). All other family members were tested and defined as carriers of the same mutation and are clinically healthy. The literature states that there is an AD but also an AR form of the disease (Immunodeficiency 14 A and B, respectively) linked to the gene. The clinical phenotype of the patient fits very well the description as LOF she suffers from severe, recurrent infections since infancy and has low overall IgG levels.

2023-12-31 | GSE216493 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data